DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61388971%3A_____%2F20%3A00537250" target="_blank" >RIV/61388971:_____/20:00537250 - isvavai.cz</a>

Alternative codes found

RIV/68378041:_____/20:00537250 RIV/00023001:_____/20:00080081

Result on the web

<a href="https://www.mdpi.com/1422-0067/21/15/5561" target="_blank" >https://www.mdpi.com/1422-0067/21/15/5561</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3390/ijms21155561" target="_blank" >10.3390/ijms21155561</a>

Result language

angličtina

Original language name

DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers

Original language description

The phenotypic effects of single nucleotide polymorphisms (SNPs) in the development of sporadic solid cancers are still scarce. The aim of this review was to summarise and analyse published data on the associations between SNPs in mismatch repair genes and various cancers. The mismatch repair system plays a unique role in the control of the genetic integrity and it is often inactivated (germline and somatic mutations and hypermethylation) in cancer patients. Here, we focused on germline variants in mismatch repair genes and found the outcomes rather controversial: some SNPs are sometimes ascribed as protective, while other studies reported their pathological effects. Regarding the complexity of cancer as one disease, we attempted to ascertain if particular polymorphisms exert the effect in the same direction in the development and treatment of different malignancies, although it is still not straightforward to conclude whether polymorphisms always play a clear positive role or a negative one. Most recent and robust genome-wide studies suggest that risk of cancer is modulated by variants in mismatch repair genes, for example in colorectal cancer. Our study shows that rs1800734 inMLH1or rs2303428 inMSH2may influence the development of different malignancies. The lack of functional studies on many DNA mismatch repair SNPs as well as their interactions are not explored yet. Notably, the concerted action of more variants in one individual may be protective or harmful. Further, complex interactions of DNA mismatch repair variations with both the environment and microenvironment in the cancer pathogenesis will deserve further attention.

Czech name

—

Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

10606 - Microbiology

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2020

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

International Journal of Molecular Sciences

ISSN

1661-6596

e-ISSN

—

Volume of the periodical

21

Issue of the periodical within the volume

15

Country of publishing house

CH - SWITZERLAND

Number of pages

29

Pages from-to

5561

UT code for WoS article

000567249700001

EID of the result in the Scopus database

2-s2.0-85089122841